Complex translocation involving chromosomes Y, 1 and 3 resulting in deletion of segment 3q23-q25
Al-Awadi SA, Naguib KK, Farag TI, Teebi AS, Cuschiere A, Al-Othman SA, et al. (1986). Complex translocation involving chromosomes Y, 1 and 3 resulting in deletion of segment 3q23-q25. J Med Genet 23:91-92.
Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy
Aldred MA, Aftimos S, Hall D, Waters KS, Thakker RV, Trembath RC, et al. (2002). Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy. Am J Med Genet 113:167-172.
Interstitial deletion of the long arm of chromosome 3: Case report, review and definition of a phenotype
Alvarado M, Bocian M, Walker AP (1987). Interstitial deletion of the long arm of chromosome 3: case report, review and definition of a phenotype. Am J Med Genet 27:781-786.
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome
Beysen D, Raes J, Leroy BP, Lucassen A, Yates JRW, Clayton-Smith J, et al. (2005). Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet 77:205-218.
Deletion in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
Costa T, Pashby R, Huggins M, Teshima IE (1998). Deletion in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). J Pediatr Ophthalmol Strabismus 35:271-276.
Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies
Franceschini P, Cirillo Silengo M, Davi G, Bianco R, Biagioli M (1983). Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies. Hum Genet 64:97.
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2-q23): A putative gene responsible for microcephaly close to the BPES gene?
Ishikiriyama S, Goto M (1993). Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2-q23): a putative gene responsible for microcephaly close to the BPES gene? Am J Med Genet 47:487-489.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review gene assignment to the interphase of band 22.3 and 3q23
Jewett T, Pao PN, Weaver RG, Stewart W, Thomas IT, Rettenati MJ (1993). Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review gene assignment to the interphase of band 22.3 and 3q23. Am J Med Genet 47:1147-1150.
Isolated autosomal dominant type E brachydactyly: Exclusion of linkage to candidate regions 2q37 and 20q13
Oude Luttikhuis ME, Williams DK, Trembath RC (1996). Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. J Med Genet 33:873-876.
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright hereditary osteodystrophy
Patten JL, Johns DR, Valle D, Eli C, Gruppuso PA, Steele G, et al. (1990). Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright hereditary osteodystrophy. New Engl J Med 322: 1412-1418.
